A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716774



Internal ID21743095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70029296..70029296hg38UCSC Ensembl
chr4:70895013..70895013hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg381807
hg191807
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240895, nssv17252754
Samples
Known GenesHTN3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716774
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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